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. 2022 Sep:128:104299.
doi: 10.1016/j.ridd.2022.104299. Epub 2022 Jul 9.

Investigating the genetic pathways of insomnia in Autism Spectrum Disorder

Maria Niarchou  1 , Emily V Singer  2 , Peter Straub  3 , Beth A Malow  2 , Lea K Davis  4
Affiliations

Investigating the genetic pathways of insomnia in Autism Spectrum Disorder

Maria Niarchou et al. Res Dev Disabil. 2022 Sep.

Abstract

Background: Sleep problems are common in children with autism spectrum disorder (autism). There is sparse research to date to examine whether insomnia in people with autism is related to autism genetics or insomnia genetics. Moreover, there is a lack of research examining whether circadian-rhythm related genes share potential pathways with autism.

Aims: To address this research gap, we tested whether polygenic scores of insomnia or autism are related to risk of insomnia in people with autism, and whether the circadian genes are associated with insomnia in people with autism.

Methods and procedures: We tested these questions using the phenotypically and genotypically rich MSSNG dataset (N = 1049) as well as incorporating in the analyses data from the Vanderbilt University Biobank (BioVU) (N = 349).

Outcomes and results: In our meta-analyzed sample, there was no evidence of associations between the polygenic scores (PGS) for insomnia and a clinical diagnosis of insomnia, or between the PGS of autism and insomnia. We also did not find evidence of a greater burden of rare and disruptive variation in the melatonin and circadian genes in individuals with autism and insomnia compared to individuals with autism without insomnia.

Conclusions and implications: Overall, we did not find evidence for strong effects of genetic scores influencing sleep in people with autism, however, we cannot rule out the possibility that smaller genetic effects may play a role in sleep problems. Our study indicated the need for a larger collection of data on sleep problems and sleep quality among people with autism.

Keywords: Autism; Circadian genes; Insomnia; Polygenic scores.

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Conflict of interest statement

Declarations of Interest

None.

Figures

Fig. 1.
Fig. 1.
Selection of insomnia cases and controls in the MSSNG dataset. This figure depicts how we selected insomnia cases and controls in the MSSNG dataset. Insomnia related sleep problems were defined as problems with sleep initiation, sleep maintenance, and short sleep duration. We also included sleep problems if they were reported as such in the medical history records. If any individual had data on these questions, we considered them as cases if they reported having sleep problems at least sometimes. In the figure we also describe the exact questions that were included as well as those that were excluded.
Fig. 2.
Fig. 2.
a. Meta-analyses results of insomnia PGS predicting sleep problems in BioVU and MSSNG. Fig. 2b. Meta-analyses results of autism PGS predicting sleep problems in BioVU and MSSNG.
See this image and copyright information in PMC

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